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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-69182175-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=69182175&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 69182175,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000690296.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA10",
"gene_hgnc_id": 30,
"hgvs_c": "c.2747T>C",
"hgvs_p": "p.Met916Thr",
"transcript": "NM_001377321.1",
"protein_id": "NP_001364250.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 1543,
"cds_start": 2747,
"cds_end": null,
"cds_length": 4632,
"cdna_start": 3303,
"cdna_end": null,
"cdna_length": 6008,
"mane_select": "ENST00000690296.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA10",
"gene_hgnc_id": 30,
"hgvs_c": "c.2747T>C",
"hgvs_p": "p.Met916Thr",
"transcript": "ENST00000690296.1",
"protein_id": "ENSP00000509702.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 1543,
"cds_start": 2747,
"cds_end": null,
"cds_length": 4632,
"cdna_start": 3303,
"cdna_end": null,
"cdna_length": 6008,
"mane_select": "NM_001377321.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA10",
"gene_hgnc_id": 30,
"hgvs_c": "c.2747T>C",
"hgvs_p": "p.Met916Thr",
"transcript": "ENST00000269081.8",
"protein_id": "ENSP00000269081.4",
"transcript_support_level": 1,
"aa_start": 916,
"aa_end": null,
"aa_length": 1543,
"cds_start": 2747,
"cds_end": null,
"cds_length": 4632,
"cdna_start": 3657,
"cdna_end": null,
"cdna_length": 6362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA10",
"gene_hgnc_id": 30,
"hgvs_c": "n.*1793T>C",
"hgvs_p": null,
"transcript": "ENST00000518929.5",
"protein_id": "ENSP00000430341.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA10",
"gene_hgnc_id": 30,
"hgvs_c": "n.*1586T>C",
"hgvs_p": null,
"transcript": "ENST00000522406.5",
"protein_id": "ENSP00000429853.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA10",
"gene_hgnc_id": 30,
"hgvs_c": "n.2747T>C",
"hgvs_p": null,
"transcript": "ENST00000523419.5",
"protein_id": "ENSP00000428032.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA10",
"gene_hgnc_id": 30,
"hgvs_c": "n.*1793T>C",
"hgvs_p": null,
"transcript": "ENST00000518929.5",
"protein_id": "ENSP00000430341.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA10",
"gene_hgnc_id": 30,
"hgvs_c": "n.*1586T>C",
"hgvs_p": null,
"transcript": "ENST00000522406.5",
"protein_id": "ENSP00000429853.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA10",
"gene_hgnc_id": 30,
"hgvs_c": "c.2747T>C",
"hgvs_p": "p.Met916Thr",
"transcript": "NM_080282.4",
"protein_id": "NP_525021.3",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 1543,
"cds_start": 2747,
"cds_end": null,
"cds_length": 4632,
"cdna_start": 3659,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABCA10",
"gene_hgnc_id": 30,
"dbsnp": "rs4968849",
"frequency_reference_population": 0.7182021,
"hom_count_reference_population": 411137,
"allele_count_reference_population": 1136144,
"gnomad_exomes_af": 0.715016,
"gnomad_genomes_af": 0.748193,
"gnomad_exomes_ac": 1022480,
"gnomad_genomes_ac": 113664,
"gnomad_exomes_homalt": 368074,
"gnomad_genomes_homalt": 43063,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000011503530004119966,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.131,
"revel_prediction": "Benign",
"alphamissense_score": 0.0725,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.185,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000690296.1",
"gene_symbol": "ABCA10",
"hgnc_id": 30,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2747T>C",
"hgvs_p": "p.Met916Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}